OpenURL Connection Search

Select item for more details and to access through your institution.

Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma.
Published in:
2019
By:
- Wong, Kim;
- Robles-Espinoza, Carla Daniela;
- Rodriguez, David;
- Rudat, Saskia S.;
- Puig, Susana;
- Potrony, Miriam;
- Wong, Chi C.;
- Hewinson, James;
- Aguilera, Paula;
- Puig-Butille, Joan Anton;
- Bressac-de Paillerets, Brigitte;
- Zattara, Hélène;
- van der Weyden, Louise;
- Fletcher, Christopher D. M.;
- Brenn, Thomas;
- Arends, Mark J.;
- Quesada, Víctor;
- Newton-Bishop, Julia A.;
- Lopez-Otin, Carlos;
- Bishop, D. Timothy
Publication type:
journal article
Association Between Confocal Morphologic Classification and Clinical Phenotypes of Multiple Primary and Familial Melanomas.
Published in:
2016
By:
- Grazziotin, Thaís Corsetti;
- Alarcon, Ivette;
- Bonamigo, Renan Rangel;
- Carrera, Cristina;
- Potrony, Miriam;
- Aguilera, Paula;
- Puig-Butillé, Joan-Anton;
- Brito, Johanna;
- Badenas, Celia;
- Alós, Llúcia;
- Malvehy, Josep;
- Puig, Susana
Publication type:
journal article
Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.
Published in:
2016
By:
- Potrony, Miriam;
- Puig-Butille, Joan Anton;
- Aguilera, Paula;
- Badenas, Celia;
- Tell-Marti, Gemma;
- Carrera, Cristina;
- del Pozo, Luis Javier;
- Conejo-Mir, Julian;
- Malvehy, Josep;
- Puig, Susana;
- Javier Del Pozo, Luis
Publication type:
journal article
Time and tumor type (primary or metastatic) do not influence the detection of BRAF/NRAS mutations in formalin fixed paraffin embedded samples from melanomas.
Published in:
Clinical Chemistry & Laboratory Medicine, 2016, v. 54, n. 11, p. 1733, doi. 10.1515/cclm-2015-1048
By:
- Potrony, Miriam;
- Badenas, Celia;
- Naerhuyzen, Bénédicte;
- Aguilera, Paula;
- Puig-Butille, Joan Anton;
- Tell-Marti, Gemma;
- Díaz, Alba;
- Carrera, Cristina;
- Alos, Llucia;
- Delahaye, Nicolas;
- Malvehy, Josep;
- Puig, Susana
Publication type:
Article
Role of CPI-17 in restoring skin homoeostasis in cutaneous field of cancerization: effects of topical application of a film-forming medical device containing photolyase and UV filters.
Published in:
Experimental Dermatology, 2013, v. 22, n. 7, p. 494, doi. 10.1111/exd.12177
By:
- Puig‐Butillé, Joan Anton;
- Malvehy, Josep;
- Potrony, Miriam;
- Trullas, Carles;
- Garcia‐García, Francisco;
- Dopazo, Joaquin;
- Puig, Susana
Publication type:
Article
Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.
Published in:
2022
By:
- Potrony, Miriam;
- Borrell, Antoni;
- Masoller, Narcís;
- Nadal, Alfons;
- Rodriguez-Carunchio, Leonardo;
- Saez de Gordoa Elizalde, Karmele;
- Quesada-Espinosa, Juan Francisco;
- Villanueva-Cañas, Jose Luis;
- Pauta, Montse;
- Jodar, Meritxell;
- Madrigal, Irene;
- Badenas, Celia;
- Alvarez-Mora, Maria Isabel;
- Rodriguez-Revenga, Laia
Publication type:
Case Study
Common genetic variants associated with melanoma risk or naevus count in patients with wildtype MC1R melanoma.
Published in:
British Journal of Dermatology, 2022, v. 187, n. 5, p. 753, doi. 10.1111/bjd.21707
By:
- Calbet‐Llopart, Neus;
- Combalia, Marc;
- Kiroglu, Anil;
- Potrony, Miriam;
- Tell‐Martí, Gemma;
- Combalia, Andrea;
- Brugues, Albert;
- Podlipnik, Sebastian;
- Carrera, Cristina;
- Puig, Susana;
- Malvehy, Josep;
- Puig‐Butillé, Joan Anton
Publication type:
Article
Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome.
Published in:
Frontiers in Aging Neuroscience, 2023, v. 14, p. 1, doi. 10.3389/fnagi.2022.1073258
By:
- Elias-Mas, Andrea;
- Potrony, Miriam;
- Bague, Jaume;
- Cutler, David J.;
- Alvarez-Mora, Maria Isabel;
- Torres, Teresa;
- Barcos, Tamara;
- Puig-Butille, Joan Anton;
- Rubio, Marta;
- Madrigal, Irene;
- Puig, Susana;
- Allen, Emily G.;
- Rodriguez-Reveng, Laia
Publication type:
Article
Efficacy of BRAF and MEK Inhibition in Patients with BRAF-Mutant Advanced Melanoma and Germline CDKN2A Pathogenic Variants.
Published in:
Cancers, 2021, v. 13, n. 10, p. 2440, doi. 10.3390/cancers13102440
By:
- Spagnolo, Francesco;
- Dalmasso, Bruna;
- Tanda, Enrica;
- Potrony, Miriam;
- Puig, Susana;
- van Doorn, Remco;
- Kapiteijn, Ellen;
- Queirolo, Paola;
- Helgadottir, Hildur;
- Ghiorzo, Paola;
- Carrier, France
Publication type:
Article
Reply.
Published in:
2016
By:
- Tell ‐ Martí, Gemma;
- Puig ‐ Butille, Joan Anton;
- Potrony, Miriam;
- Badenas, Celia;
- Milà, Montserrat;
- Malvehy, Josep;
- Martí, María José;
- Ezquerra, Mario;
- Fernández ‐ Santiago, Rubén;
- Puig, Susana;
- Tell-Martí, Gemma;
- Puig-Butille, Joan Anton;
- Milà, Montserrat;
- Martí, María José;
- Fernández-Santiago, Rubén
Publication type:
journal article
Reply.
Published in:
2016
By:
- Tell‐Martí, Gemma;
- Puig‐Butille, Joan Anton;
- Potrony, Miriam;
- Badenas, Celia;
- Milà, Montserrat;
- Malvehy, Josep;
- Martí, María José;
- Ezquerra, Mario;
- Fernández‐Santiago, Rubén;
- Puig, Susana
Publication type:
commentary
Reply: To PMID 25631192.
Published in:
2015
By:
- Tell-Martí, Gemma;
- Puig-Butille, Joan Anton;
- Potrony, Miriam;
- Badenas, Celia;
- Milà, Montserrat;
- Malvehy, Josep;
- Martí, María José;
- Ezquerra, Mario;
- Fernández-Santiago, Rubén;
- Puig, Susana
Publication type:
Letter
Reply.
Published in:
Annals of Neurology, 2015, v. 78, n. 1, p. 153, doi. 10.1002/ana.24418
By:
- Tell‐Martí, Gemma;
- Puig‐Butille, Joan Anton;
- Potrony, Miriam;
- Badenas, Celia;
- Milà, Montserrat;
- Malvehy, Josep;
- Martí, María José;
- Ezquerra, Mario;
- Fernández‐Santiago, Rubén;
- Puig, Susana
Publication type:
Article
The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.
Published in:
2015
By:
- Tell-Marti, Gemma;
- Puig-Butille, Joan Anton;
- Potrony, Miriam;
- Badenas, Celia;
- Milà, Montserrat;
- Malvehy, Josep;
- Martí, María José;
- Ezquerra, Mario;
- Fernández-Santiago, Rubén;
- Puig, Susana
Publication type:
journal article
The MC1R melanoma risk variant p. R160W is associated with Parkinson disease.
Published in:
Annals of Neurology, 2015, v. 77, n. 5, p. 889, doi. 10.1002/ana.24373
By:
- Tell‐Marti, Gemma;
- Puig‐Butille, Joan Anton;
- Potrony, Miriam;
- Badenas, Celia;
- Milà, Montserrat;
- Malvehy, Josep;
- Martí, María José;
- Ezquerra, Mario;
- Fernández‐Santiago, Rubén;
- Puig, Susana
Publication type:
Article
IRF4 rs12203592 functional variant and melanoma survival.
Published in:
International Journal of Cancer, 2017, v. 140, n. 8, p. 1845, doi. 10.1002/ijc.30605
By:
- Potrony, Miriam;
- Rebollo‐Morell, Aida;
- Giménez‐Xavier, Pol;
- Zimmer, Lisa;
- Puig‐Butille, Joan Anton;
- Tell‐Marti, Gemma;
- Sucker, Antje;
- Badenas, Celia;
- Carrera, Cristina;
- Malvehy, Josep;
- Schadendorf, Dirk;
- Puig, Susana
Publication type:
Article
Inherited functional variants of the lymphocyte receptor CD5 influence melanoma survival.
Published in:
International Journal of Cancer, 2016, v. 139, n. 6, p. 1297, doi. 10.1002/ijc.30184
By:
- Potrony, Miriam;
- Carreras, Esther;
- Aranda, Fernando;
- Zimmer, Lisa;
- Puig‐Butille, Joan‐Anton;
- Tell‐Martí, Gemma;
- Armiger, Noelia;
- Sucker, Antje;
- Giménez‐Xavier, Pol;
- Martínez‐Florensa, Mario;
- Carrera, Cristina;
- Malvehy, Josep;
- Schadendorf, Dirk;
- Puig, Susana;
- Lozano, Francisco
Publication type:
Article
Incidental pathogenic germline alterations detected through liquid biopsy in patients with solid tumors: prevalence, clinical utility and implications.
Published in:
British Journal of Cancer, 2024, v. 130, n. 9, p. 1420, doi. 10.1038/s41416-024-02607-9
By:
- Laguna, Juan Carlos;
- Pastor, Belén;
- Nalda, Irene;
- Hijazo-Pechero, Sara;
- Teixido, Cristina;
- Potrony, Miriam;
- Puig-Butillé, Joan Antón;
- Mezquita, Laura
Publication type:
Article
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
Published in:
Genes, 2023, v. 14, n. 4, p. 813, doi. 10.3390/genes14040813
By:
- Alvarez-Mora, María Isabel;
- Rodríguez-Revenga, Laia;
- Jodar, Meritxell;
- Potrony, Miriam;
- Sanchez, Aurora;
- Badenas, Celia;
- Oriola, Josep;
- Villanueva-Cañas, José Luis;
- Muñoz, Esteban;
- Valldeoriola, Francesc;
- Cámara, Ana;
- Compta, Yaroslau;
- Carreño, Mar;
- Martí, María Jose;
- Sánchez-Valle, Raquel;
- Madrigal, Irene
Publication type:
Article
Influence of germline genetic variants on dermoscopic features of melanoma.
Published in:
Pigment Cell & Melanoma Research, 2021, v. 34, n. 3, p. 618, doi. 10.1111/pcmr.12954
By:
- Pozzobon, Flavia Carolina;
- Tell‐Marti, Gemma;
- Calbet‐Llopart, Neus;
- Barreiro, Alicia;
- Espinosa, Natalia;
- Potrony, Míriam;
- Alejo, Beatriz;
- Podlipnik, Sebastian;
- Combalia, Marc;
- Puig‐Butillé, Joan Anton;
- Carrera, Cristina;
- Malvehy, Josep;
- Puig, Susana
Publication type:
Article
Melanocortin‐1 receptor (MC1R) genotypes do not correlate with size in two cohorts of medium‐to‐giant congenital melanocytic nevi.
Published in:
Pigment Cell & Melanoma Research, 2020, v. 33, n. 5, p. 685, doi. 10.1111/pcmr.12883
By:
- Calbet‐Llopart, Neus;
- Pascini‐Garrigos, Mirella;
- Tell‐Martí, Gemma;
- Potrony, Miriam;
- Martins da Silva, Vanessa;
- Barreiro, Alicia;
- Puig, Susana;
- Captier, Guillaume;
- James, Isabelle;
- Degardin, Nathalie;
- Carrera, Cristina;
- Malvehy, Josep;
- Etchevers, Heather C.;
- Puig‐Butillé, Joan Anton
Publication type:
Article
Melanocortin 1 receptor (MC1R) polymorphisms' influence on size and dermoscopic features of nevi.
Published in:
Pigment Cell & Melanoma Research, 2018, v. 31, n. 1, p. 39, doi. 10.1111/pcmr.12646
By:
- Vallone, María Gabriela;
- Tell‐Marti, Gemma;
- Potrony, Miriam;
- Rebollo‐Morell, Aida;
- Badenas, Celia;
- Puig‐Butille, Joan Anton;
- Gimenez‐Xavier, Pol;
- Carrera, Cristina;
- Malvehy, Josep;
- Puig, Susana
Publication type:
Article
Genomic analysis and clinical management of adolescent cutaneous melanoma.
Published in:
Pigment Cell & Melanoma Research, 2017, v. 30, n. 3, p. 307, doi. 10.1111/pcmr.12574
By:
- Rabbie, Roy;
- Rashid, Mamunur;
- Arance, Ana M.;
- Sánchez, Marcelo;
- Tell ‐ Marti, Gemma;
- Potrony, Miriam;
- Conill, Carles;
- Doorn, Remco;
- Dentro, Stefan;
- Gruis, Nelleke A.;
- Corrie, Pippa;
- Iyer, Vivek;
- Robles ‐ Espinoza, Carla Daniela;
- Puig ‐ Butille, Joan A.;
- Puig, Susana;
- Adams, David J.
Publication type:
Article
The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.
Published in:
Molecular Neurobiology, 2017, v. 54, n. 5, p. 3906, doi. 10.1007/s12035-016-0305-5
By:
- Tell-Marti, Gemma;
- Puig-Butille, Joan;
- Gimenez-Xavier, Pol;
- Segu-Roig, Ariadna;
- Potrony, Miriam;
- Badenas, Celia;
- Alvarez, Victoria;
- Millán, José;
- Trujillo-Tiebas, María;
- Ramos-Arroyo, María;
- Milà, Montserrat;
- Puig, Susana
Publication type:
Article
TERT Promoter Mutation Status as an Independent Prognostic Factor in Cutaneous Melanoma.
Published in:
JNCI: Journal of the National Cancer Institute, 2014, v. 106, n. 9, p. 1, doi. 10.1093/jnci/dju246
By:
- Griewank, Klaus G.;
- Murali, Rajmohan;
- Puig-Butille, Joan Anton;
- Schilling, Bastian;
- Livingstone, Elisabeth;
- Potrony, Miriam;
- Carrera, Cristina;
- Schimming, Tobias;
- Möller, Inga;
- Schwamborn, Marion;
- Sucker, Antje;
- Hillen, Uwe;
- Badenas, Celia;
- Malvehy, Josep;
- Zimmer, Lisa;
- Scherag, André;
- Puig, Susana;
- Schadendorf, Dirk
Publication type:
Article

Found: 25